HPO Phenotype Lookup
lookup_phenotypeRetrieve an HPO phenotype term with its definition, synonyms, parent terms, and associated diseases from HPO, OMIM, and Orphanet. Enter an HPO ID to access clinical annotations for variant reporting and disease analysis.
Instructions
Retrieve an HPO phenotype term with associated disease annotations.
Returns:
Phenotype label, definition, synonyms
Diseases annotated with this phenotype (from HPO + OMIM + Orphanet)
Parent phenotype terms
Example: lookup_phenotype(hpo_id='HP:0001250')
returns the Seizure phenotype with ~400 associated diseases.
Input Schema
| Name | Required | Description | Default |
|---|---|---|---|
| params | Yes |
Output Schema
| Name | Required | Description | Default |
|---|---|---|---|
| result | Yes |